A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524634



Internal ID15105241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71697245..71718820hg38UCSC Ensembl
Innerchr12:72091025..72112600hg19UCSC Ensembl
Innerchr12:70377292..70398867hg18UCSC Ensembl
Innerchr12:70377292..70398867hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3821576
hg1921576
hg1821576
hg1721576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700599
Samples
Known GenesTMEM19
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524634
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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